The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias

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The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias.

OBJECTIVE Achilles tendon (AT) xanthomas, specific for familial hypercholesterolemia (FH), may be clinically undetectable. We assessed the usefulness of AT sonography in the diagnosis of FH. METHODS AND RESULTS Sonographic AT characteristics were evaluated in 127 subjects with FH (81 genetically ascertained), 84 familial combined hyperlipidemia, 79 polygenic hypercholesterolemia, and 88 normo...

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Familial Hypercholesterolemia: From Diagnosis to Treatment

Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset of coronary hear...

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Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias.

In this issue of Circulation, van der Graaf and colleagues1 studied 1430 children, aged 4 to 18 years, who were referred to an academic pediatric lipid clinic in the Netherlands because of dyslipidemia from July 1989 to January 2008. The objective was to determine what proportion of those with the phenotype of autosomal dominant hypercholesterolemia (ADH) had mutations in the genes encoding the...

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Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...

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Autoantibody titers against OxLDL are correlated with Achilles tendon thickness in patients with familial hypercholesterolemia.

Achilles tendon xanthomas are associated with increased cardiovascular risk in patients with familial hypercholesterolemia (FH). Oxidized low density lipoprotein (OxLDL), the antibodies against OxLDL, and the LDL-associated phospholipase A(2) (Lp-PLA(2)) may play important roles in atherogenesis. We investigated the possible association between plasma levels of OxLDL, Lp-PLA(2) activity, and au...

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ژورنال

عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology

سال: 2005

ISSN: 1079-5642,1524-4636

DOI: 10.1161/01.atv.0000183888.48105.d1